Advanced search    

Search: authors:"Yu-Ri Choi"

7 papers found.
Use AND, OR, NOT, +word, -word, "long phrase", (parentheses) to fine-tune your search.

Cellular Attachment and Differentiation on Titania Nanotubes Exposed to Air- or Nitrogen-Based Non-Thermal Atmospheric Pressure Plasma

The surface topography and chemistry of titanium implants are important factors for successful osseointegration. However, chemical modification of an implant surface using currently available methods often results in the disruption of topographical features and the loss of beneficial effects during the shelf life of the implant. Therefore, the aim of this study was to apply the...

A novel homozygous MPV17 mutation in two families with axonal sensorimotor polyneuropathy

Background Mutations in MPV17 cause the autosomal recessive disorder mitochondrial DNA depletion syndrome 6 (MTDPS6), also called Navajo neurohepatopathy (NNH). Clinical features of MTDPS6 is infantile onset of progressive liver failure with seldom development of progressive neurologic involvement. Methods Whole exome sequencing (WES) was performed to isolate the causative gene...

A Mutation in PMP2 Causes Dominant Demyelinating Charcot-Marie-Tooth Neuropathy

Charcot-Marie-Tooth disease (CMT) is a heterogeneous group of peripheral neuropathies with diverse genetic causes. In this study, we identified p.I43N mutation in PMP2 from a family exhibiting autosomal dominant demyelinating CMT neuropathy by whole exome sequencing and characterized the clinical features. The age at onset was the first to second decades and muscle atrophy...

Overexpression of mutant HSP27 causes axonal neuropathy in mice

Background Mutations in heat shock 27 kDa protein 1 (HSP27 or HSPB1) cause distal hereditary motor neuropathy (dHMN) or Charcot-Marie-Tooth disease type 2 F (CMT2F) according to unknown factors. Mutant HSP27 proteins affect axonal transport by reducing acetylated tubulin. Results We generated a transgenic mouse model overexpressing HSP27-S135F mutant protein driven by...

A compound heterozygous mutation in HADHB gene causes an axonal Charcot-Marie-tooth disease

Background Charcot-Marie-Tooth disease (CMT) is a heterogeneous disorder of the peripheral nervous system. So far, mutations in hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit (HADHB) gene exhibit three distinctive phenotypes: severe neonatal presentation with cardiomyopathy, hepatic form with recurrent hypoketotic...

Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease

Background Mutations in the Pleckstrin homology domain-containing, family G member 5 (PLEKHG5) gene has been reported in a family harboring an autosomal recessive lower motor neuron disease (LMND). However, the PLEKHG5 mutation has not been described to cause Charcot-Marie-Tooth disease (CMT). Methods To identify the causative mutation in an autosomal recessive intermediate CMT...